Canonical Allele Identifier: CA531428397

Gene: MPV17

Linked Data

• dbSNP Id: rs1197306810
• gnomAD v2: 2-27533007-CTG-C
• gnomAD v3: 2-27310139-CTG-C
• gnomAD v4: 2-27310139-CTG-C
• MyVariant Identifiers: chr2:g.27533008_27533009del (hg19) ; chr2:g.27310140_27310141del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27310141_27310142del , CM000664.2:g.27310141_27310142del	GRCh38
NC_000002.11:g.27533009_27533010del , CM000664.1:g.27533009_27533010del	GRCh37
NC_000002.10:g.27386513_27386514del	NCBI36
NG_008075.1:g.17423_17424del
NG_033055.1:g.3122_3123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.462-160_462-159del MANE Select	ENSP00000369383.1:n.462-160_462-159del
ENST00000233545.6:c.462-160_462-159del	ENSP00000233545.2:n.462-160_462-159del
ENST00000357186.10:c.294-160_294-159del	ENSP00000349713.6:n.294-160_294-159del
ENST00000380044.5:c.462-160_462-159del	ENSP00000369383.1:n.462-160_462-159del
ENST00000402310.5:c.409-160_409-159del	ENSP00000383955.1:n.409-160_409-159del
ENST00000402722.5:c.*41-160_*41-159del	ENSP00000386000.1:n.*41-160_*41-159del
ENST00000405076.5:c.273-160_273-159del	ENSP00000385175.1:n.273-160_273-159del
ENST00000405983.5:c.507-160_507-159del	ENSP00000384586.1:n.507-160_507-159del
ENST00000415514.5:c.*263-160_*263-159del	ENSP00000388043.1:n.*263-160_*263-159del
ENST00000426513.6:c.*127-160_*127-159del	ENSP00000403824.2:n.*127-160_*127-159del
ENST00000430991.5:c.296-160_296-159del
ENST00000620797.4:n.135-160_135-159del
ENST00000621183.4:n.765-160_765-159del
NM_002437.4:c.462-160_462-159del	NP_002428.1:n.462-160_462-159del
XM_005264326.2:c.462-160_462-159del	XP_005264383.1:n.462-160_462-159del
XM_005264327.2:c.303-160_303-159del	XP_005264384.1:n.303-160_303-159del
XM_006712021.2:c.414-160_414-159del	XP_006712084.1:n.414-160_414-159del
XM_005264326.4:c.462-160_462-159del	XP_005264383.1:n.462-160_462-159del
XM_006712021.3:c.414-160_414-159del	XP_006712084.1:n.414-160_414-159del
XM_017004150.1:c.444-160_444-159del	XP_016859639.1:n.444-160_444-159del
XM_017004151.1:c.414-160_414-159del	XP_016859640.1:n.414-160_414-159del
XM_017004152.1:c.303-160_303-159del	XP_016859641.1:n.303-160_303-159del
XM_024452913.1:c.414-160_414-159del	XP_024308681.1:n.414-160_414-159del
NM_002437.5:c.462-160_462-159del MANE Select	NP_002428.1:n.462-160_462-159del